促甲状腺激素受体胞内环基因突变与乳头状甲状腺癌发病的相关性研究  

Preliminary study of gene mutation in cytoplasmic loops of the thyroid stimulating hormone receptor among papillary thyroid cancer patients

作　　者：张帆[1] 戴亚丽[1] 蓝薇[1] 叶静[2] 于洁[2] 彭卫群[1] 

机构地区：[1]北京大学深圳医院内分泌科,深圳518036 [2]北京大学深圳医院中心实验室,深圳518036

出　　处：《中国地方病学杂志》2005年第5期510-512,共3页Chinese Jouranl of Endemiology

基　　金：深圳市科技局资助项目(200104014)

摘　　要：目的探讨乳头状甲状腺癌的发病与促甲状腺激素受体(TSHR)基因突变的相关性。方法采用巢氏-多聚酶联反应-单链构象多态性分析(NEST-PCR-SSCP)和DNA测序方法,对65例乳头状甲状腺癌和44例正常甲状腺组织TSHR3个胞内环基因进行检测。结果NEST-PCR-SSCP检测乳头状甲状腺癌促甲状腺激素受体(TSHR)3个胞内环未发现明显带型异常;DNA测序后,检测的第3胞内环2例对照组织和3例甲状腺癌组织TSHR2000位点碱基均由C→T,使得所编码的601位氨基酸由组氨酸(CAT)→酪氨酸(TAT)(His→Tyr),余胞内环未发现基因突变。结论乳头状甲状腺癌TSHR3个胞内环未发现基因突变,提示乳头状甲状腺癌发病与TSHR胞内环基因突变无关;5例标本601位氨基酸均为酪氨酸,考虑中国人TSHR基因可能与国外人群存在差异,TSHR2000位点碱基存在基因多态性。Objective To investigate the correlation between the gene mutation in three cytoplasmic loops of the thyroid stimulating hormone receptor （TSHR） and papillary thyroid cancer. Methods Three cytoplasmic loops of the TSHR were analyzed by an approach of combination of nest polymerase chain reaction and single strand conformation polymorphism（NEST-PCR-SSCP）, followed by DNA sequencing in a total of 65 samples from papillary thyroid cancer patients and 44 controls. Results Abnormal mobility of SSCP band was not found neither in papillary thyroid cancer samples, nor in controls. The samples from 2 controls and 3 papillary thyroid cancer were further sequenced for the targeted 3rd cytoplasmic loop in TSHR, and the results showed that the nucleotide site 2 000（the first base of codon 601 ） had a C→T transmission（CAT and TAT）, resulting in a substitution of His to Tyr. There was no mutation detected in other cytoplasmic loops. Conclusion The gene mutation identified in three cytoplasmic loops of the TSH receptor shows no association with the occurrence of papillary thyroid cancer, and the C→T transmission in TSH is an ethnic-specific polymorphism marker occurred in Chinese population.

关 键 词：甲状腺癌 促甲状腺激素受体 单链构象多态性分析 基因突变 

分 类 号：R736.1[医药卫生—肿瘤]